Details of Disease

General Information of Disease (ID: DIS4Q3XX)

• Disease Name: Combined oxidative phosphorylation defect type 13
• Synonyms: combined oxidative phosphorylation deficiency 13; PNPT1 combined oxidative phosphorylation deficiency; COXPD13; combined oxidative phosphorylation deficiency caused by mutation in PNPT1; combined oxidative phosphorylation deficiency type 13
• Definition: Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DIS4Q3XX: Combined oxidative phosphorylation defect type 13
• Disease Identifiers:
  MONDO ID: MONDO_0013977
  UMLS CUI: C4706283
  OMIM ID: 614932
  MedGen ID: 1631854
  Orphanet ID: 319514
  SNOMED CT ID: 763110007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNPT1	OTBR2Q0F	Definitive	Autosomal recessive	[1]

References

• [1] Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. Am J Hum Genet. 2012 Nov 2;91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18.